Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing
Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing
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通过全外显子组测序鉴定中国色素性视网膜炎家系中的新 NRL 突变
作者：
Qin Y.;Liu F.;Yu S.;Yang L.;Gao M.;Tang Z.;Guo A. Y.;Zhang M.;Li P.;Liu M.
先证者（II：图1a中2例，43岁）主诉自童年起夜盲症，随后出现视野缺损、视力下降。眼底检查显示视网膜中周部有骨针色素沉着（图1b）。她14岁的女儿（III：1）也在10岁前报告了夜盲症。末次眼科检查时未观察到明显色素沉着（图1b）。为了确定可能的致病突变，我们使用先证者的基因组DNA进行了全外显子组测序。通过多步生物信息学管道（补充信息），选择候选变体，并通过桑格测序和分离分析进行验证。C小说NRL中的147_149del（p.Ser50del）变异被鉴定为该家族最可能的原因（图1c）。250例正常对照组无此变异。
The proband (II: 2 in Figure 1a, 43 years old) complained of night blindness since childhood, followed by visual field loss and reduction of visual acuity. Fundus examination revealed bone-spicules pigmentation in the mid-peripheral retina (Figure 1b). Her 14-year-old daughter (III: 1) also reported night blindness before age 10 years. No apparent pigmentation could be seen at the time of the last ophthalmologic examination (Figure 1b). To identify the possible causing mutation (s), we performed whole-exome sequencing using the proband's genomic DNA. Through a multistep bioinformatics pipeline (Supplementary Information), candidate variants were selected and validated by Sanger sequencing and segregation analysis. A novel c. 147_149del (p. Ser50del) variation in NRL was identified as the most likely cause of the family (Figure 1c). The variation was absent in 250 normal controls.